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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRD5A2

Variant:p.L130P

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SRD5A2

NM_000348.4:p.L130P

hg38:chr2:31533659 A>G

Associated Papers

[Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the SRD5A2 gene].

Kalinchenko NY et al.

Problemy Endokrinologii, 2025

41640146 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."